Identification of DSPP novel variants and phenotype analysis in dentinogenesis dysplasia Shields type II patients.

Objectives: To investigate the genetic causes and teeth characteristics of dentin dysplasia Shields type II(DD-II) in three Chinese families.

Materials And Methods: Data from three Chinese families affected with DD-II were collected. Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were conducted to screen for variations, and Sanger sequencing was used to verify mutation sites.